BLS1
MCID: BRL011
MIFTS: 44

Bare Lymphocyte Syndrome, Type I (BLS1)

Categories: Blood diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Bare Lymphocyte Syndrome, Type I

MalaCards integrated aliases for Bare Lymphocyte Syndrome, Type I:

Name: Bare Lymphocyte Syndrome, Type I 57 13 72
Hla Class I Deficiency 57 12 25 74 55
Bare Lymphocyte Syndrome Type I 12 25
Mhc Class I Deficiency 12 15
Bls, Type I 57 12
Bare Lymphocyte Syndrome, Type I, Due to Tap2 Deficiency 57
Major Histocompatibility Complex Class 1 Deficiency 53
Bare Lymphocyte Syndrome 1 74
Mhc Class 1 Deficiency 53
Bls Type I 74
Bls I 74
Blsi 12
Bls1 74
Bl-1 17

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
reduced life expectancy


HPO:

32
bare lymphocyte syndrome, type i:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060009
OMIM 57 604571
MeSH 44 D007153
ICD10 33 D81.6
MedGen 42 C1858266
UMLS 72 C1858266

Summaries for Bare Lymphocyte Syndrome, Type I

Genetics Home Reference : 25 Bare lymphocyte syndrome type I (BLS I) is an inherited disorder of the immune system (primary immunodeficiency). Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as bacteria or viruses. Starting in childhood, most people with BLS I develop recurrent bacterial infections in the lungs and airways (respiratory tract). These recurrent infections can lead to a condition called bronchiectasis, which damages the passages leading from the windpipe to the lungs (bronchi) and can cause breathing problems. Many people with BLS I also have open sores (ulcers) on their skin, usually on the face, arms, and legs. These ulcers typically develop in adolescence or young adulthood. Some people with BLS I have no symptoms of the condition. People with BLS I have a shortage of specialized immune proteins called major histocompatibility complex (MHC) class I proteins on cells, including infection-fighting white blood cells (lymphocytes), which is where the condition got its name.

MalaCards based summary : Bare Lymphocyte Syndrome, Type I, also known as hla class i deficiency, is related to orbital melanoma and burkitt lymphoma. An important gene associated with Bare Lymphocyte Syndrome, Type I is TAPBP (TAP Binding Protein), and among its related pathways/superpathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Affiliated tissues include skin and lung, and related phenotypes are chronic otitis media and emphysema

Disease Ontology : 12 A severe combined immunodeficiency that is characterized by recurrent bacterial, viral, and fungal infections, especially of the lung, and sterile necrotizing granulomas of the skin, develops from deficiency or decreased surface expression of MHC Class I, has material basis in autosomal recessive inheritance of mutation affecting MHC Class I production or expression and frequently involves TAP1 and TAP2 subunits, and is typically asymptomatic in infancy.

UniProtKB/Swiss-Prot : 74 Bare lymphocyte syndrome 1: A HLA class I deficiency. Contrary to bare lymphocyte syndromes type 2 and type 3, which are characterized by early-onset severe combined immunodeficiency, class I antigen deficiencies are not accompanied by particular pathologic manifestations during the first years of life. Systemic infections have not been described. Chronic bacterial infections, often beginning in the first decade of life, are restricted to the respiratory tract.

More information from OMIM: 604571

Related Diseases for Bare Lymphocyte Syndrome, Type I

Graphical network of the top 20 diseases related to Bare Lymphocyte Syndrome, Type I:



Diseases related to Bare Lymphocyte Syndrome, Type I

Symptoms & Phenotypes for Bare Lymphocyte Syndrome, Type I

Human phenotypes related to Bare Lymphocyte Syndrome, Type I:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 chronic otitis media 32 HP:0000389
2 emphysema 32 HP:0002097
3 skin ulcer 32 HP:0200042
4 ectopia lentis 32 HP:0001083
5 nasal polyposis 32 HP:0100582
6 chronic sinusitis 32 HP:0011109
7 bronchiectasis 32 HP:0002110
8 bronchiolitis 32 HP:0011950
9 recurrent bronchitis 32 HP:0002837

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
chronic otitis media

Head And Neck Eyes:
ectopia lentis

Respiratory Airways:
bronchitis
bronchiolitis
bronchial obstruction
unilateral bronchiectasis
bilateral bronchiectasis
more
Laboratory Abnormalities:
normal cd8+/cd4+ ratio

Respiratory Lung:
emphysema

Head And Neck Nose:
nasal polyposis
chronic sinusitis
pansinusitis

Skin Nails Hair Skin:
pigmentary abnormalities
localized cutaneous necrobiosis lipoidica
deep skin ulcers

Clinical features from OMIM:

604571

Drugs & Therapeutics for Bare Lymphocyte Syndrome, Type I

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An 8-week Full Face HUT Design, Single Center, Double Blinded, Controlled and Randomized Study to Evaluate Different Product Regimens' Performance on Protecting Skin With Resilience Under Tracked City Environmental Aggressors Completed NCT03264677

Search NIH Clinical Center for Bare Lymphocyte Syndrome, Type I

Genetic Tests for Bare Lymphocyte Syndrome, Type I

Anatomical Context for Bare Lymphocyte Syndrome, Type I

MalaCards organs/tissues related to Bare Lymphocyte Syndrome, Type I:

41
Skin, Lung

Publications for Bare Lymphocyte Syndrome, Type I

Articles related to Bare Lymphocyte Syndrome, Type I:

(show all 24)
# Title Authors PMID Year
1
A subject with a novel type I bare lymphocyte syndrome has tapasin deficiency due to deletion of 4 exons by Alu-mediated recombination. 9 8 71
12149238 2002
2
Splice acceptor site mutation of the transporter associated with antigen processing-1 gene in human bare lymphocyte syndrome. 38 8 71
10074494 1999
3
Homozygous human TAP peptide transporter mutation in HLA class I deficiency. 38 8 71
7517574 1994
4
Association of a syndrome resembling Wegener's granulomatosis with low surface expression of HLA class-I molecules. 8 71
10560675 1999
5
Defective expression of HLA class I antigens: a case of the bare lymphocyte without immunodeficiency. 8 71
3891604 1985
6
HLA class I deficiencies due to mutations in subunit 1 of the peptide transporter TAP1. 9 38
10074495 1999
7
Chronic granulomatous skin lesions leading to a diagnosis of TAP1 deficiency syndrome. 38
30189467 2018
8
HLA class I deficiency as an additional cause of bronchiectasis. 38
26172480 2015
9
HLA class I deficiency as an additional cause of bronchiectasis - Reply. 38
26172572 2015
10
TAP deficiency syndrome: chronic rhinosinusitis and conductive hearing loss. 38
18283480 2008
11
HLA class I deficiency syndrome mimicking Wegener's granulomatosis. 38
18668571 2008
12
Novel human pathological mutations. Gene symbol: TAP2. Disease: HLA class I deficiency. 38
17879436 2007
13
Novel human pathological mutations. Gene symbol: TAP2. Disease: HLA class I deficiency. 38
17879452 2007
14
Clinical and immunological aspects of HLA class I deficiency. 38
16087697 2005
15
Recurrent infections and bilateral uveitis in a patient with CD8 deficiency. 38
17301423 2005
16
[Molecular basis of HLA class-I deficiency and bare lymphocyte syndrome (BLS)]. 38
15995590 2005
17
Skewed inhibitory receptors expression in a TAP2-deficient patient. 38
12644316 2003
18
Asymptomatic deficiency in the peptide transporter associated to antigen processing (TAP). 38
12067308 2002
19
Prolonged survival of a bare lymphocyte syndrome type I patient with diffuse panbronchiolitis treated with erythromycin. 38
11587107 2001
20
Granulomatous disease associated with HLA class I deficiency. 38
11298563 2001
21
Tolerance of NK and LAK activity for HLA class I-deficient targets in a TAP1-deficient patient (bare lymphocyte syndrome type I). 38
9952025 1999
22
Corrections and clarifications. 38
17841697 1994
23
CD1 expression is not affected by human peptide transporter deficiency. 38
7530699 1994
24
[The bare lymphocyte syndrome. Combined immune deficiency by absence of HLA antigen expression]. 38
6231562 1984

Variations for Bare Lymphocyte Syndrome, Type I

ClinVar genetic disease variations for Bare Lymphocyte Syndrome, Type I:

6 (show top 50) (show all 143)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TAP1 TAP1, IVS1, G-A, -1 single nucleotide variant Pathogenic
2 TAP2 NM_000544.3(TAP2): c.958del (p.Glu320fs) deletion Pathogenic 6:32800589-32800589 6:32832812-32832812
3 TAP1 NM_000593.5(TAP1): c.1151C> G (p.Ser384Ter) single nucleotide variant Pathogenic 6:32818800-32818800 6:32851023-32851023
4 TAPBP TAPBP, 7.4-KB DEL deletion Pathogenic
5 TAP2 TAP2, ARG253TER single nucleotide variant Pathogenic
6 TAP2 TAP2, 1-BP DEL deletion Pathogenic
7 TAP2 NM_000544.3(TAP2): c.217_218del (p.Thr73fs) deletion Likely pathogenic 6:32805793-32805794 6:32838016-32838017
8 TAP2 NM_000544.3(TAP2): c.1272+1G> A single nucleotide variant Likely pathogenic rs1222208628 6:32800109-32800109 6:32832332-32832332
9 TAP1 NM_000593.5(TAP1): c.1727C> T (p.Pro576Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs2228106 6:32816448-32816448 6:32848671-32848671
10 TAP1 NM_000593.5(TAP1): c.1231-3C> T single nucleotide variant Conflicting interpretations of pathogenicity rs56366814 6:32818297-32818297 6:32850520-32850520
11 TAP2 NM_000544.3(TAP2): c.656C> T (p.Ser219Phe) single nucleotide variant Uncertain significance rs1554235670 6:32803503-32803503 6:32835726-32835726
12 TAPBP NM_003190.4(TAPBP): c.1258G> A (p.Ala420Thr) single nucleotide variant Uncertain significance rs1382572674 6:33271947-33271947 6:33304170-33304170
13 TAPBP NM_003190.4(TAPBP): c.845del (p.Val282fs) deletion Uncertain significance rs765712832 6:33272789-33272789 6:33305012-33305012
14 TAPBP NM_003190.4(TAPBP): c.161C> T (p.Pro54Leu) single nucleotide variant Uncertain significance rs139155669 6:33281518-33281518 6:33313741-33313741
15 TAP1 NM_000593.5(TAP1): c.1383C> G (p.Asn461Lys) single nucleotide variant Uncertain significance rs756823000 6:32818142-32818142 6:32850365-32850365
16 TAP1 NM_000593.5(TAP1): c.1157C> A (p.Ser386Tyr) single nucleotide variant Uncertain significance rs779346609 6:32818794-32818794 6:32851017-32851017
17 TAP1 NM_000593.5(TAP1): c.590C> G (p.Pro197Arg) single nucleotide variant Uncertain significance rs1010241068 6:32821004-32821004 6:32853227-32853227
18 TAP2 NM_000544.3(TAP2): c.848G> C (p.Gly283Ala) single nucleotide variant Uncertain significance rs1278521116 6:32803028-32803028 6:32835251-32835251
19 TAPBP NM_003190.4(TAPBP): c.369G> A (p.Trp123Ter) single nucleotide variant Uncertain significance rs1554279286 6:33281094-33281094 6:33313317-33313317
20 TAP1 NM_000593.5(TAP1): c.496_516dup (p.Ala166_Leu172dup) duplication Uncertain significance rs1311169361 6:32821078-32821098 6:32853301-32853321
21 TAP2 NM_000544.3(TAP2): c.1776G> A (p.Met592Ile) single nucleotide variant Uncertain significance rs147150415 6:32797726-32797726 6:32829949-32829949
22 TAP2 NM_000544.3(TAP2): c.359G> T (p.Ser120Ile) single nucleotide variant Uncertain significance rs932756573 6:32805652-32805652 6:32837875-32837875
23 TAP1 NM_000593.5(TAP1): c.919G> A (p.Gly307Arg) single nucleotide variant Uncertain significance rs59328013 6:32819991-32819991 6:32852214-32852214
24 TAPBP NM_003190.4(TAPBP): c.562A> T (p.Thr188Ser) single nucleotide variant Uncertain significance rs561629511 6:33273072-33273072 6:33305295-33305295
25 TAP1 NM_000593.5(TAP1): c.1300A> T (p.Met434Leu) single nucleotide variant Uncertain significance rs779844691 6:32818225-32818225 6:32850448-32850448
26 TAP1 NM_000593.5(TAP1): c.122C> T (p.Pro41Leu) single nucleotide variant Uncertain significance rs554237124 6:32821472-32821472 6:32853695-32853695
27 TAPBP NM_003190.4(TAPBP): c.1181G> A (p.Arg394His) single nucleotide variant Uncertain significance rs763198738 6:33272103-33272103 6:33304326-33304326
28 TAPBP NM_003190.4(TAPBP): c.464C> G (p.Ala155Gly) single nucleotide variant Uncertain significance rs747106102 6:33280999-33280999 6:33313222-33313222
29 TAP1 NM_000593.5(TAP1): c.1313G> A (p.Arg438Gln) single nucleotide variant Uncertain significance rs373810087 6:32818212-32818212 6:32850435-32850435
30 TAP2 NM_000544.3(TAP2): c.1909C> A (p.Leu637Ile) single nucleotide variant Uncertain significance rs752068310 6:32797200-32797200 6:32829423-32829423
31 TAP1 NM_000593.5(TAP1): c.2399T> C (p.Val800Ala) single nucleotide variant Uncertain significance rs1554242514 6:32813384-32813384 6:32845607-32845607
32 TAP1 NM_000593.5(TAP1): c.989G> A (p.Arg330His) single nucleotide variant Uncertain significance rs140245535 6:32819921-32819921 6:32852144-32852144
33 TAP2 NM_000544.3(TAP2): c.1852G> T (p.Ala618Ser) single nucleotide variant Uncertain significance 6:32797257-32797257 6:32829480-32829480
34 TAP2 NM_000544.3(TAP2): c.2005G> A (p.Ala669Thr) single nucleotide variant Uncertain significance 6:32796739-32796739 6:32828962-32828962
35 TAP2 NM_000544.3(TAP2): c.1769A> G (p.Gln590Arg) single nucleotide variant Uncertain significance 6:32797733-32797733 6:32829956-32829956
36 TAP2 NM_000544.3(TAP2): c.1720G> A (p.Asp574Asn) single nucleotide variant Uncertain significance 6:32797782-32797782 6:32830005-32830005
37 TAP2 NM_000544.3(TAP2): c.1714G> A (p.Glu572Lys) single nucleotide variant Uncertain significance 6:32797788-32797788 6:32830011-32830011
38 TAP2 NM_000544.3(TAP2): c.1655A> G (p.Glu552Gly) single nucleotide variant Uncertain significance 6:32797847-32797847 6:32830070-32830070
39 TAP2 NM_000544.3(TAP2): c.1373C> T (p.Thr458Met) single nucleotide variant Uncertain significance 6:32798483-32798483 6:32830706-32830706
40 TAP2 NM_000544.3(TAP2): c.818G> A (p.Arg273Gln) single nucleotide variant Uncertain significance 6:32803058-32803058 6:32835281-32835281
41 TAP2 NM_000544.3(TAP2): c.100G> A (p.Gly34Arg) single nucleotide variant Uncertain significance 6:32805911-32805911 6:32838134-32838134
42 TAP1 NM_000593.5(TAP1): c.2005A> G (p.Met669Val) single nucleotide variant Uncertain significance 6:32815368-32815368 6:32847591-32847591
43 TAP1 NM_000593.5(TAP1): c.1637C> T (p.Pro546Leu) single nucleotide variant Uncertain significance 6:32816538-32816538 6:32848761-32848761
44 TAP1 NM_000593.5(TAP1): c.1534A> G (p.Met512Val) single nucleotide variant Uncertain significance 6:32816790-32816790 6:32849013-32849013
45 TAP1 NM_000593.5(TAP1): c.2156G> A (p.Arg719Gln) single nucleotide variant Uncertain significance rs121917702 6:32814909-32814909 6:32847132-32847132
46 TAPBP NM_003190.4(TAPBP): c.591G> A (p.Pro197=) single nucleotide variant Uncertain significance 6:33273043-33273043 6:33305266-33305266
47 TAP1 NM_000593.5(TAP1): c.289C> T (p.Arg97Trp) single nucleotide variant Uncertain significance 6:32821305-32821305 6:32853528-32853528
48 TAP1 NM_000593.5(TAP1): c.184G> A (p.Ala62Thr) single nucleotide variant Uncertain significance 6:32821410-32821410 6:32853633-32853633
49 TAP1 NM_000593.5(TAP1): c.73C> T (p.Pro25Ser) single nucleotide variant Uncertain significance 6:32821521-32821521 6:32853744-32853744
50 TAPBP NM_003190.4(TAPBP): c.1046T> C (p.Leu349Pro) single nucleotide variant Uncertain significance 6:33272238-33272238 6:33304461-33304461

Expression for Bare Lymphocyte Syndrome, Type I

Search GEO for disease gene expression data for Bare Lymphocyte Syndrome, Type I.

Pathways for Bare Lymphocyte Syndrome, Type I

Pathways related to Bare Lymphocyte Syndrome, Type I according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.59 TAPBP TAP2 TAP1 LIMK1 KLRC1 CD8A
2
Show member pathways
12.98 TAPBP TAP2 TAP1 KLRC1 CD8A CD40
3
Show member pathways
12.53 TAPBP TAP2 TAP1 LIMK1
4
Show member pathways
12.35 TAPBP TAP2 TAP1 RFXAP RFXANK RFX5
5 12.17 TAP2 TAP1 CD8A
6
Show member pathways
12 TAPBP TAP2 TAP1 CD8A
7 11.83 RFXAP RFXANK RFX5
8 11.67 KLRC1 CD8A CD40
9 10.74 TAP2 TAP1 RFXAP RFXANK RFX5 CD8A
10 10.73 TAPBP TAP2 TAP1

GO Terms for Bare Lymphocyte Syndrome, Type I

Cellular components related to Bare Lymphocyte Syndrome, Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear speck GO:0016607 9.5 TAP2 RFXAP LIMK1
2 phagocytic vesicle membrane GO:0030670 9.43 TAPBP TAP2 TAP1
3 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 9.33 TAPBP TAP2 TAP1
4 TAP complex GO:0042825 8.96 TAP2 TAP1
5 MHC class I peptide loading complex GO:0042824 8.8 TAPBP TAP2 TAP1

Biological processes related to Bare Lymphocyte Syndrome, Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.71 TAP2 TAP1 CD8A CD40
2 regulation of immune response GO:0050776 9.61 KLRC1 CD8A CD40
3 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.43 TAPBP TAP2 TAP1
4 peptide transport GO:0015833 9.37 TAP2 TAP1
5 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent GO:0002479 9.33 TAPBP TAP2 TAP1
6 cytosol to ER transport GO:0046967 9.32 TAP2 TAP1
7 antigen processing and presentation of endogenous peptide antigen via MHC class I GO:0019885 9.13 TAPBP TAP2 TAP1
8 vesicle fusion with endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane GO:1990668 8.8 TAPBP TAP2 TAP1

Molecular functions related to Bare Lymphocyte Syndrome, Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.46 TAP2 TAP1
2 peptide antigen binding GO:0042605 9.43 TAPBP TAP1
3 MHC protein binding GO:0042287 9.4 TAP2 TAP1
4 peptide transmembrane transporter activity GO:1904680 9.37 TAP2 TAP1
5 MHC class I protein binding GO:0042288 9.33 TAPBP TAP1 CD8A
6 TAP2 binding GO:0046979 9.32 TAPBP TAP1
7 MHC class Ib protein binding GO:0023029 9.26 TAP2 TAP1
8 TAP1 binding GO:0046978 9.13 TAPBP TAP2 TAP1
9 peptide antigen-transporting ATPase activity GO:0015433 8.8 TAPBP TAP2 TAP1

Sources for Bare Lymphocyte Syndrome, Type I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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